NEW P57(KIP2) MUTATIONS IN BECKWITH-WIEDEMANN-SYNDROME

Beckwith-Wiedemann syndrome (BWS) is characterized by numerous growth abnormalities and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15.5 region, as determined by linkage analy sis of autosomal dominant pedigrees. The increased maternal transmissi on pattern seen in the autosomal dominant-type pedigrees and the findi ngs of paternal uniparental disomy reported for a subgroup of patients indicate that the gene for BWS is imprinted, Previously, we found p57 (KIP2), which is a Cdk-kinase inhibitor located at 11p15, is mutated i n two BWS patients. Here, we screened for the mutation of the gene in 15 BWS patients.